Article

<i>Saccharomyces cerevisiae</i> strains display robust phenotypes in the presence of Dyskeratosis congenita mutations in the <i>Cbf5</i> gene

2019-01-30

Abstract excerpt

Dyskeratosis congenita is a rare, congenital disorder affecting the skin, nails and oral mucosa of patients that often progresses to bone marrow failure and an increased predisposition for a variety of carcinomas. Mutations in the human dyskerin gene have been identified as the most prevalent cause of the disease. Dyskerin is a pseudouridine synthase and the catalytic subunit of H/ACA ribonucleoproteins (RNPs) res...

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Literature Corpus work: 9d636e37-2eaf-55bb-80c6-bed7aa8f05f9
DOI: 10.1101/535443

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